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1.
Article in English | WPRIM | ID: wpr-917655

ABSTRACT

Background@#Recessive dystrophic epidermolysis bullosa (RDEB) manifests in various cutaneous and extracutaneous complications that lead to considerable morbidity and mortality, however, no precise incidence data are available. @*Objective@#To investigate the prevalence of inherited epidermolysis bullosa (EB) stratified by subtypes, demographics, and clinical characteristics in Korean patients with EB, and major clinical events and outcomes in Korean RDEB patients. @*Methods@#A total of 179 patients diagnosed with EB at a single tertiary hospital between January 2005 and January 2020 were retrospectively analyzed. @*Results@#Among the 179 patients, 86 (48.0%) had EB simplex, 45 (25.1%) had dominant dystrophic EB, 38 (21.2%) had RDEB, and 10 (5.6%) had juncttional EB. Symptoms of the disease were present at age 1 year in 38 patients with RDEB (100%), 10 with junctional EB (100%), 41 with dominant dystrophic EB (91.1%), and 63 with EB simplex (73.3%). Among the 38 patients with RDEB, 20 (52.6%) had anemia, 21 (55.3%) had pseudosyndactyly, 9 (23.7%) had cardiac disorder (23.7%) (e.g., dilated cardiomyopathy), 9 (23.7%) had ophthalmic disorders, 11 (28.9%) had methicillin-resistant Staphylococcus aureus skin infection, 7 (18.4%) had esophageal stricture, and 4 (10.5%) developed squamous cell carcinoma at a mean age of 46.7 years. Seventeen subjects (44.7%) underwent hand/foot surgery at a mean age of 6.6 years. Six subjects (15.8%) underwent esophageal dilation at a mean age of 23 years. Five patients (13.2%) died. @*Conclusion@#RDEB affects multiple organ systems and requires a multidisciplinary therapeutic approach. Understanding the incidence and outcomes of milestone clinical events is crucial for optimal management of RDEB patients.

2.
Annals of Dermatology ; : 271-274, 2021.
Article in English | WPRIM | ID: wpr-896803

ABSTRACT

Paraneoplastic pemphigus is a rare, life-threatening disorder associated with an underlying neoplasm, which presents with painful stomatitis and polymorphous skin lesions. Successful diagnosis of paraneoplastic pemphigus can lead to the diagnosis and treatment of the underlying malignancy.However, involvement of the respiratory system is typically unresponsive to treatment. Herein, we report the case of a 44-year-old female diagnosed with paraneoplastic pemphigus with underlying follicular lymphoma treated with a chemotherapy regimen including rituximab. Her skin lesions and underlying lymphoma responded to treatment, but bronchiolitis obliterans continued to progress and resulted in fatal respiratory failure.

3.
Annals of Dermatology ; : 271-274, 2021.
Article in English | WPRIM | ID: wpr-889099

ABSTRACT

Paraneoplastic pemphigus is a rare, life-threatening disorder associated with an underlying neoplasm, which presents with painful stomatitis and polymorphous skin lesions. Successful diagnosis of paraneoplastic pemphigus can lead to the diagnosis and treatment of the underlying malignancy.However, involvement of the respiratory system is typically unresponsive to treatment. Herein, we report the case of a 44-year-old female diagnosed with paraneoplastic pemphigus with underlying follicular lymphoma treated with a chemotherapy regimen including rituximab. Her skin lesions and underlying lymphoma responded to treatment, but bronchiolitis obliterans continued to progress and resulted in fatal respiratory failure.

4.
Annals of Dermatology ; : 159-163, 2020.
Article in English | WPRIM | ID: wpr-811080

ABSTRACT

Happle-Tinschert syndrome is a rare disease characterized by unilateral, segmentally arranged basaloid follicular hamartoma (BFH) with osseous, dental, and cerebral anomalies. Although BFH has been demonstrated to be associated with mutations in the patched gene, the genetic basis for Happle-Tinschert syndrome is still unknown. We describe a case of Happle-Tinschert syndrome in a 26-year-old female. The patient presented with unilateral skin color change to brownish papules and atrophoderma following the development of Blaschko's lines, plantar pitting, and nail dystrophy on the right side of the body. She also had scoliosis, hemihypotrophy, and dental anomalies. The skin lesions were histologically confirmed as BFHs. Next-generation sequencing of the patient's genomic DNA obtained from a peripheral blood sample identified no pathogenic mutation. This case illustrates the characteristic clinical features of Happle-Tinschert syndrome. Thus far, 14 cases of Happle-Tinschert syndrome have been reported, and we report another case of this syndrome.


Subject(s)
Adult , DNA , Female , Hamartoma , Humans , Rare Diseases , Scoliosis , Skin , Skin Pigmentation
5.
Article in English | WPRIM | ID: wpr-901922

ABSTRACT

Neutrophilic urticarial dermatosis (NUD) clinically resembles urticaria but histopathologically represents a neutrophilic dermatoses. Affected patients develop erythematous macules, papules or slightly raised plaques lasting 24 to 48 hours. Histopathologic examination reveals an intense neutrophilic infiltration in the dermis with leukocytoclasia, but without fibrinoid necrosis of vessel walls. Clinical manifestations of NUD are similar to urticaria or Sweet’s syndrome, but it differs in that accompanying systemic symptoms like fever or arthralgia, and histologic features of dense neutrophilic infiltration in the dermis. A 69-year-old female patient presented with a one-day history of pruritic skin rashes and fever. Skin rashes appear erythematous patches and plaques on the whole body accompanied with multiple vesiculobullous lesions on both lower legs. Skin biopsy of lesion displayed interstitial neutrophilic infiltration in Indian file between collagen fiber, and leukocytoclasia. There were no clinical and laboratory findings that suspect of associated diseases. Herein, we report the first case of NUD developing vesiculobullous lesions.

6.
Article in English | WPRIM | ID: wpr-894218

ABSTRACT

Neutrophilic urticarial dermatosis (NUD) clinically resembles urticaria but histopathologically represents a neutrophilic dermatoses. Affected patients develop erythematous macules, papules or slightly raised plaques lasting 24 to 48 hours. Histopathologic examination reveals an intense neutrophilic infiltration in the dermis with leukocytoclasia, but without fibrinoid necrosis of vessel walls. Clinical manifestations of NUD are similar to urticaria or Sweet’s syndrome, but it differs in that accompanying systemic symptoms like fever or arthralgia, and histologic features of dense neutrophilic infiltration in the dermis. A 69-year-old female patient presented with a one-day history of pruritic skin rashes and fever. Skin rashes appear erythematous patches and plaques on the whole body accompanied with multiple vesiculobullous lesions on both lower legs. Skin biopsy of lesion displayed interstitial neutrophilic infiltration in Indian file between collagen fiber, and leukocytoclasia. There were no clinical and laboratory findings that suspect of associated diseases. Herein, we report the first case of NUD developing vesiculobullous lesions.

7.
Article | WPRIM | ID: wpr-832667

ABSTRACT

Sézary syndrome is an aggressive, leukemic cutaneous T-cell lymphoma variant, characterized by a triad of circulating neoplastic T cells and erythroderma with/without associated lymphadenopathy. A 51-year-old man presented with erythroderma and multiple nodular skin lesions over the face. The facial skin was thickened, producing “leonine facial” appearance. On physical examination, the axillary and inguinal lymph nodes were enlarged. Investigations revealed the presence of atypical lymphoid cells in the peripheral blood, bone marrow, and skin. The histopathology of skin showed dermal infiltration of atypical small lymphocytes with mild epidermotropism. Immunohistochemical studies showed that the infiltrated cells were positive for CD3 and CD4, but negative for CD8 and CD20. A diagnosis of Sézary syndrome was made based on the clinical, peripheral blood, and immunophenotypical findings.

8.
Article in English | WPRIM | ID: wpr-759781

ABSTRACT

Immunoglobulin A (IgA) pemphigus is a rare variant of an autoimmune bullous disease with IgA antibodies. IgA pemphigus is divided into 2 major subtypes: the subcorneal pustular dermatosis (SPD) type and intraepidermal neutrophilic (IEN) dermatosis type. We documented a case of an 18-year-old woman with recurrent generalized blisters and pustules that were especially severe in the intertriginous areas. Some half-and-half blisters and coalesced pustules in an annular pattern with crusts were simultaneously observed. A biopsy specimen from one of the half-and-half blister lesions showed intraepidermal separation with multiple neutrophils. Direct immunofluorescence staining revealed lace-like intercellular deposition of IgA in the entire epidermis. IgA antibody deposits were also observed in the patient's serum. The eruptions cleared with systemic steroids and colchicine 0.6 mg for 1 week, and the patient remained in partial remission at the 8-month follow-up. Herein, we report a case of IEN-type IgA pemphigus, clinically mimicking SPD with half-and-half blisters.


Subject(s)
Adolescent , Antibodies , Biopsy , Blister , Colchicine , Epidermis , Female , Fluorescent Antibody Technique, Direct , Follow-Up Studies , Humans , Immunoglobulin A , Immunoglobulins , Neutrophils , Pemphigus , Skin Diseases , Skin Diseases, Vesiculobullous , Steroids
9.
Article in Korean | WPRIM | ID: wpr-759768

ABSTRACT

Pustulotic arthro-osteitis (PAO) is a rare chronic inflammatory disorder characterized by inflammatory osteitis of the sternoclavicular joint and palmoplantar pustulosis. Here, we report a case of PAO that was successfully treated with a TNF-α inhibitor. A 45-year-old man presented with a 3-month history of pustular eruption on the palms and soles. Physical examination showed multiple erythematous papulopustules on the palms, back, and left shin, accompanied by sternoclavicular joint swelling and tenderness. Skin biopsy showed intraepidermal pustules filled with neutrophils on the palm. Bone scintigraphy revealed increased uptake in the bilateral sternoclavicular and other axial joints. Based on these findings, we made the diagnosis of PAO. Even after 6-month treatment of oral steroids and cyclosporine, skin manifestations insufficiently improved, so etanercept therapy was started. Complete clearance of skin lesions and joint pain were achieved after 3 months of etanercept therapy.


Subject(s)
Arthralgia , Biopsy , Cyclosporine , Diagnosis , Etanercept , Humans , Joints , Middle Aged , Neutrophils , Osteitis , Physical Examination , Radionuclide Imaging , Skin , Skin Manifestations , Sternoclavicular Joint , Steroids
10.
Article in Korean | WPRIM | ID: wpr-759766

ABSTRACT

A 61-year-old man presented with a 3-year history of erythematous firm nodules on the hands and feet. Histopathological findings of the lesional skin revealed perivascular and diffuse neutrophilic infiltrations on the upper and mid-dermis. Increased and dilated blood vessels were observed in the upper dermis. Fibrinoid necrosis of the vessel walls was unremarkable, but endothelial swelling and scant red blood cell (RBC) extravasation were noted. Fibrosis and sclerosis of collagen fibers were noted on the deep dermis. Results of laboratory examinations, including complete blood count (CBC), routine chemistry, c-reactive protein (CRP), syphilis and human immunodeficiency virus (HIV) tests, and serum immunoglobulin electrophoresis, were all negative or within normal limit. A diagnosis of erythema elevatum diutinum was made based on the clinical and histological findings. The patient was treated with prednisolone, dapsone, colchicine, and intralesional injection of triamcinolone and showed slight improvement after treatment for 8 months.


Subject(s)
Blood Cell Count , Blood Vessels , C-Reactive Protein , Chemistry , Colchicine , Collagen , Dapsone , Dermis , Diagnosis , Electrophoresis , Erythema , Erythrocytes , Fibrosis , Foot , Hand , HIV , Humans , Immunoglobulins , Injections, Intralesional , Middle Aged , Necrosis , Neutrophils , Prednisolone , Sclerosis , Skin , Syphilis , Triamcinolone
11.
Article in English | WPRIM | ID: wpr-759746

ABSTRACT

Segmental neurofibromatosis, a subtype of neurofibromatosis type 1, is characterized by neurofibromas and/or café-au-lait spots limited to an area or segment of the body. Checkerboard pattern is a rare type of cutaneous mosaic manifestation, characterized by squares or broad ribbons of affected skin with sharp demarcation at the midline. Herein, we report the case of a patient with bilateral segmental neurofibromatosis with lentiginosis showing a checkerboard pattern. Our patient had multiple hyperpigmented macules on her entire body in a checkerboard pattern since birth. Several café-au-lait patches were observed on the left buttock and right axilla. A neurofibroma was incidentally found beneath the café-au-lait patch by histological examination, which showed ill-defined spindle cells with elongated nuclei at the deep dermis that stained positive for S-100. Based on the clinical presentation and histopathologic results, the patient was diagnosed with bilateral segmental neurofibromatosis with lentiginosis showing a checkerboard pattern.


Subject(s)
Axilla , Body Patterning , Buttocks , Dermis , Humans , Lentigo , Neurofibroma , Neurofibromatoses , Neurofibromatosis 1 , Parturition , Skin
12.
Article in English | WPRIM | ID: wpr-759709

ABSTRACT

We report a rare case of a bullous type of pyoderma gangrenosum in a pediatric patient. A 3-year-old female patient visited our department with recurrent hemorrhagic bullae and erosive patches for 1 year. Skin biopsy revealed a subepidermal blister with diffuse neutrophilic infiltrations in the dermis. The diagnosis of bullous pyoderma gangrenosum was made by exclusion of other diseases via bacterial culture, laboratory, and immunofluorescence studies. The skin lesions responded well to a low dose of systemic corticosteroid, but the lesions recurred frequently.


Subject(s)
Biopsy , Blister , Child , Child, Preschool , Dermis , Diagnosis , Female , Fluorescent Antibody Technique , Humans , Neutrophils , Pyoderma Gangrenosum , Pyoderma , Skin
13.
Article in Korean | WPRIM | ID: wpr-718997

ABSTRACT

No abstract available.


Subject(s)
Collodion
14.
Annals of Dermatology ; : 544-549, 2018.
Article in English | WPRIM | ID: wpr-717770

ABSTRACT

BACKGROUND: Bullous pemphigoid (BP) is an autoimmune subepidermal blistering disease characterized by tissue-bound and circulating autoantibodies directed against BP180 and/or BP230 antigens. Various inflammatory cells are involved in the development of blister in BP. OBJECTIVE: The aim of this study was to evaluate the correlation between peripheral leukocyte counts and BP severity. METHODS: We retrospectively included 60 patients with BP, who had not been treated with systemic steroid at the time of blood sampling. The patients were classified into two groups, those with admission history (admission group) and those without admission history (non-admission group). Disease severity was evaluated using three parameters: admission history, initial steroid dosage, and modified version of a pemphigus scoring system. We evaluated the correlation between peripheral leukocyte counts and disease severity measured by the three parameters. RESULTS: The admission group showed a significant increase in disease severity measured by initial steroid dosage and severity score compared with the non-admission group. Additionally, the admission group had increased total leukocyte, eosinophil, and neutrophil counts. In the correlation study, the peripheral eosinophil and neutrophil counts showed positive correlation with BP severity evaluated by both initial steroid dosage and the pemphigus scoring system. CONCLUSION: Peripheral eosinophil and neutrophil counts can be used as a marker in predicting disease severity in patients with BP.


Subject(s)
Autoantibodies , Blister , Eosinophils , Humans , Leukocyte Count , Leukocytes , Neutrophils , Pemphigoid, Bullous , Pemphigus , Retrospective Studies , Statistics as Topic
15.
Annals of Dermatology ; : 468-472, 2018.
Article in English | WPRIM | ID: wpr-716496

ABSTRACT

Patients with chronic lymphocytic leukemia (CLL) rarely exhibit an exaggerated insect bite-like reaction without a history of an arthropod bite. We report a case of an insect bite-like reaction in a 74-year old man with CLL. The patient presented with a 2-year history of recurrent itchy erythematous patches and blisters on the whole body. He had been diagnosed with CLL 2 years ago, and the skin lesions developed 1 month after remission. The result of a skin biopsy was consistent with insect bite. Immunohistochemical staining of the infiltrated cells showed positive reactions for CD3, CD5 and negative for CD20, CD23. Direct and indirect immunofluorescence revealed negative results. The patient was treated with oral prednisolone and dapsone, under the diagnosis of CLL-associated insect bite-like reaction, and showed marked improvement. Dermatologist should be aware of insect bite-like reaction associated with CLL as a distinct disease entity that is similar to insect bite or bullous pemphigoid.


Subject(s)
Arthropods , Biopsy , Blister , Dapsone , Diagnosis , Fluorescent Antibody Technique, Indirect , Humans , Insect Bites and Stings , Insecta , Leukemia, Lymphocytic, Chronic, B-Cell , Pemphigoid, Bullous , Prednisolone , Skin
16.
Yonsei Medical Journal ; : 341-344, 2018.
Article in English | WPRIM | ID: wpr-713188

ABSTRACT

Olmsted syndrome (OS) is a rare congenital skin disorder characterized by severe palmoplantar and periorificial keratoderma, alopecia, onychodystrophy, and severe pruritus. Recently, pathogenic ‘gain-of-function‘ mutations of the transient receptor potential vanilloid 3 gene (TRPV3), which encodes a cation channel involved in keratinocyte differentiation and proliferation, hair growth, inflammation, pain and pruritus, have been identified to cause OS. Due to the rarity, the pattern of inheritance of OS is still unclear. We report a case of OS in a 3-year-old Korean girl and its underlying gene mutation. The patient presented with a disabling, bilateral palmoplantar keratoderma with onychodystrophy. She also exhibited pruritic eczematous skin lesions around her eyes, ears and gluteal fold. Genetic analysis identified a heterozygous p.Gly568Val missense mutation in the exon 13 of TRPV3. To our knowledge, this is the first case of OS in the Korean population showing a missense mutation p.Gly573Ser.


Subject(s)
Abnormalities, Multiple/genetics , Base Sequence , Child, Preschool , Female , Heterozygote , Humans , Keratoderma, Palmoplantar/genetics , Lipid Droplets/ultrastructure , Mutation, Missense/genetics , Skin/pathology , Syndrome , TRPV Cation Channels/genetics
17.
Article in English | WPRIM | ID: wpr-159878

ABSTRACT

Scar sarcoidosis is a cutaneous manifestation of sarcoidosis arising on old cutaneous scars. We report four cases of scar sarcoidosis after blepharoplasty. Lesions were seen to manifest as erythematous, firm, and non-tender nodules diffusely palpable along an upper eyelid scar. Histologically, numerous non-caseating granulomas with multinucleated giant cells were seen. No other evidence of systemic sarcoidosis was observed in any patient. Although rare, sarcoidosis may occur in an eyelid scar after a blepharoplasty. Therefore, scar sarcoidosis should be considered in the differential diagnosis in patients presenting with unusual nodules in blepharoplasty scars.


Subject(s)
Blepharoplasty , Cicatrix , Diagnosis, Differential , Eyelids , Giant Cells , Granuloma , Humans , Sarcoidosis
18.
Annals of Dermatology ; : 790-793, 2017.
Article in English | WPRIM | ID: wpr-225288

ABSTRACT

Sclerema neonatorum (SN) is a rare disease characterized by firm, indurated, waxy skin lesions extending throughout the body, sparing the fat-free soles, palms, and genitalia. The prognosis of SN is generally very poor, with a high fatality rate. We report the case of a full-term infant with delayed onset of SN showing good prognosis. A 4-month-old Korean male infant presented with diffuse waxy, sclerotic skin lesions on the whole body, sparing the face, nipples, and genital area, which began developing at 2 months of age. Histopathologic findings of the sclerotic skin lesions showed wide, fibrous intersecting bands in the subcutaneous fat tissue. Only sparse infiltration of lymphocytes and histiocytes was observed in the fat lobules and septa. Based on clinical presentation and histopathologic findings, he was diagnosed with SN. The patient survived with conservative care and had mild improvement of the skin lesions on his follow-up visit at 12 months of age.


Subject(s)
Follow-Up Studies , Genitalia , Histiocytes , Humans , Infant , Lymphocytes , Male , Nipples , Prognosis , Rare Diseases , Sclerema Neonatorum , Skin , Subcutaneous Fat
19.
Article in Korean | WPRIM | ID: wpr-208033

ABSTRACT

No abstract available.


Subject(s)
Female , Humans , Neck
20.
Yonsei Medical Journal ; : 395-400, 2017.
Article in English | WPRIM | ID: wpr-174321

ABSTRACT

PURPOSE: Atopic dermatitis (AD) is a chronic, relapsing eczematous inflammatory skin disease. Mutations in the filaggrin gene (FLG) are major predisposing factors for AD. Ethnic differences exist between Asian and European populations in the frequency and spectrum of FLG mutations. Moreover, a distinct set of FLG mutations has been reported in Asian populations. The aim of this study was to examine the spectrum of FLG mutations in Koreans with AD. We also investigated the association of FLG mutations and clinical features of AD and compared the Korean FLG landscape with that of other East Asian countries. MATERIALS AND METHODS: Seventy Korean patients with AD were enrolled in this study. Fourteen FLG mutations previously detected in Korean, Japanese, and Chinese patients were screened by genotyping. RESULTS: Four FLG null mutations (3321delA, K4022X, S3296X, and S2889X) were identified in eleven patients (15.7%). The most commonly detected mutations in Korean patients with AD were 3321delA (n=6, 9.1%) and K4022X (n=3, 4.5%). FLG mutations were significantly associated with elevated IgE (≥200 KIU/L and/or MAST-CLA >3+, p=0.005), palmar hyperlinearity (p<0.001), and a family history of allergic disease (p=0.021). CONCLUSION: This study expanded our understanding of the landscape of FLG mutations in Koreans and revealed an association between FLG mutations and AD phenotype.


Subject(s)
Asian Continental Ancestry Group , Causality , Dermatitis, Atopic , Humans , Immunoglobulin E , Phenotype , Skin Diseases
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